G17W (p.Gly17Trp) variant of AMH (Anti-Muellerian hormone)
G17W (p.Gly17Trp) in AMH (Anti-Muellerian hormone) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
G17W (p.Gly17Trp) variant details
- p.Gly17Trp
- gnomAD 19-2249381-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- REVEL 0.46
- CADD 24.30
- PolyPhen-2 0.99
- SIFT 0.00
- MutPred 0.54
- Population evidence available
- Structural context available
- Literature evidence available